UNIVERSIDAD SAN FRANCISCO DE QUITO USFQ

Colegio de Ciencias de la Salud

A 23-year-old man with an intra-abdominal desmoid tumor: an interactive review

Análisis de caso

Miguel Francisco Andrade Egues

Medicina

Trabajo de titulación presentado como requisito para la obtención del título de

Médico

Quito, 5 de diciembre de 2018

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UNIVERSIDAD SAN FRANCISCO DE QUITO USFQ

COLEGIO DE CIENCIAS DE LA SALUD

HOJA DE CALIFICACIÓN DE TRABAJO DE TITULACIÓN

A 23-year-old man with an intra-abdominal desmoid tumor: an interactive review

Miguel Francisco Andrade Egues

Calificación:

Nombre del profesor, Título académico Harry F. Dorn Arias, MD

Firma del profesor

Quito, 5 de diciembre de 2018

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Derechos de Autor £

Por medio del presente documento certifico que he leído todas las Políticas y

Manuales de la Universidad San Francisco de Quito USFQ, incluyendo la Política de

Propiedad Intelectual USFQ, y estoy de acuerdo con su contenido, por lo que los

derechos de propiedad intelectual del presente trabajo quedan sujetos a lo dispuesto en

esas Políticas.

Asimismo, autorizo a la USFQ para que realice la digitalización y publicación de

este trabajo en el repositorio virtual, de conformidad a lo dispuesto en el Art. 144 de la

Ley Orgánica de Educación Superior.

Firma del estudiante: _______________________________________ Nombres y apellidos: Miguel Francisco Andrade Egues Código: 00110682 Cédula de Identidad: 1714554985 Lugar y fecha: Quito, 5 de diciembre de 2018

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RESUMEN

Los tumores desmoides son entidades raras de rápido crecimiento. Se caracterizan por un bajo poder de metástasis pero tienen un índice alto de recurrencia. Los tumores desmoides poseen una gran variabilidad clínica. Esta discusión de caso trata sobre un adulto masculino de veintitrés años con diagnóstico de un tumor desmoide intra-abdominal. Los exámenes de sangre realizados fueron inconclusos, mientras que los exámenes de gabinete realizados demostraron una masa mesentérica. El diagnóstico diferencial se baso en dos problemas principales. Uno, síntomas del tracto urinario inferior y dos, el dolor abdominal. Se discuten dos vías moleculares, la vía de Wnt/Beta catenina y la vía del complejo de poliposis adenomatosa. Los tumores desmoides son incidentales que se desarrollan precipitosamente y que requieren supervisión constante una vez resecados. Este caso interactivo intenta explicar las posibles vías por las cuales surge la enfermedad y expone las dificultades y daros importantes al momento de realizar el diagnóstico.

Palabras clave: Tumor desmoide, síntomas del tracto urinario inferior, dolor abdominal, vía Wnt/Beta catenina, complejo de poliposis adenomatosa

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ABSTRACT

Desmoid tumors are rare, rapidly growing, masses with minimal metastatic power and high rates of recurrence at the same location. Desmoid tumors have large clinical course variability. Treatment is a therapeutical challenge, because of its clinical variability. This is a case discussion of a previously healthy 23-year-old young adult with the diagnosis of a Desmoid Tumor. Laboratory tests where inconclusive, echography demonstrated a hipoechogenic solid mass. Computed Tomography reported an intra-mesenteric mass. The differential diagnosis had two major problems: lower urinary tract symptoms and abdominal pain There are two major molecular pathways described: 1. Wnt-Beta Catenin signaling pathway and 2. Adenomatous Polyposis Coli Complex. Desmoid tumors are incidental, precipitously developing neoplasms that require constant supervision. This discussion addresses important issues at the moment of diagnosis and treatment, and tries to explain the pathways through which the pathology arises. Key Words: Desmoid Tumor, Lower Urinary Tract Symptoms, Abdominal Pain, Wnt/Catenin signaling pathway, Adenomatous Polyposis Coli Complex

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TABLE OF CONTENTS

INTRODUCTION .............................................................................................................................. 9 CASE PRESENTATION ................................................................................................................ 10 DIFFERENTIAL DIAGNOSIS .................................................................................................... 15

Urinary tract symptoms ........................................................................................................................... 15

Abdominal pain .......................................................................................................................................... 17

DIAGNOSIS AND TREATMENT ................................................................................................ 19 PATHOLOGY ................................................................................................................................... 20 FOLLOW UP .................................................................................................................................... 22 DISCUSSION ................................................................................................................................... 23 REFERENCES ................................................................................................................................. 27 APPENDIX A: FIBROUS TUMOR IMMUNOHISTOCHEMICAL STAINING ............... 32

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LIST OF TABLES

Table 1. Laboratory data obtained during patient's hospitalization ....................................... 15 Table 2. Types and categories of LUTS ................................................................................................ 17 Table 3. Common association of lower abdominal pain and different pathologies ........... 19

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LIST OF FIGURES

Figure 1. Abdominal CT scan ................................................................................................................... 12 Figure 2. Abdominal CT scan ................................................................................................................... 13 Figure 3. Abdominal CT scan ................................................................................................................... 13

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INTRODUCTION

Desmoid tumors (DT’s) are rare, rapidly growing, masses with minimal metastatic

power and high rates of recurrence at the same location. (Ravi, Shreyaskumar , Chandrajit, &

DeLaney) They represent 0.03% of all neoplasms and 3% of all soft tissue tumors and appear

approximately in 3-5 million people of the global population. (Reitamo , Häyry , Nykyri , &

Saxén ). They have 2 types of presentations: one related to familial adenomatous polyposis

(FAP) and another sporadic form. The more common presentation is the sporadic form, seen

predominantly in females; during or after pregnancy. It is also related to stress; cesarean

section, abdominal surgery or antecedent trauma (Nieuwenhuis, et al.), (Fallen , Wilson,

Morlan, & Lindor), (Koskenvuo, et al.). The FAP related presentation, represent up to 15% of

all DT’s and affect 10-20% of people with the disease (Nieuwenhuis, et al.).

DT’s have large clinical course variability, it is not unusual for patients to present

with abysmally different growth rates, sudden periods of relapse or even spontaneous

regression (Fiore, et al.), (Sagar , Möslein , & Dozois). Theoretically, DT’s can grow along

any fascia on the body, but al least 50% appear on the abdomen, the other half is divided

mainly to the shoulder, chest wall and inguinal area (Gurbuz, et al.). Histologically DT’s are

monoclonal cells of fibroblasts, the periphery of the tumor is surrounded by fibroblasts and

the core is made up of fibrosarcoma resembling cells (Maomi, Cordon-Cardo, Gerald, &

Rosai). Most recently, molecular pathology of DT’s has demonstrated a clonal chromosome

anomaly, for both FAP and sporadic presentations. It is related to a damaged Wnt signaling

pathway (Lazar, et al.), (Mullen, et al.).

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The treatment for DT’s sets a therapeutical challenge, because of its clinical

variability. The plausible therapeutic scenarios are; observation, surgical resection and

radiation therapy (Ballo, Zagars, Pollack , Pisters, & Pollock ). Inevitably, the majority of

patients with intra abdominal DT’s are submitted to surgical resection (Ballo, Zagars, Pollack

, Pisters, & Pollock ). High recurrence rate call for periodic surveillance, standardized by the

National Comprehensive Cancer Network.

CASE PRESENTATION

A previously healthy 23-year-old young adult, presented to the emergency room for

inability to evacuate his bladder. The urinary symptoms had begun 3 days earlier with, what

the patient described, as constant urinary urge and feeling unable to completely empty his

bladder. The urinary symptoms where accompanied by chronic, intermittent and diffuse

abdominal pain. The pain was located on the hypogastric region, with no irradiation. The

patient denied any other additional symptoms, including nausea, vomit, diarrhea,

constipation, fever, night sweats or bright red, white or darkened colored stools. Aside from

the previously mentioned urinary symptoms the patient denied change in urine composition.

His familiar medical history included leukemia and gastric cancer (CA) from his maternal

grandfather and paternal grandfather, correspondently. His past medical history exposed a

previous dental procedure a year before and no known allergies. His social history was

positive for alcohol on social occasions and tobacco; half a pack a day for 4 years. He did not

use illicit drugs. His blood type was ORH (-). He was born and raised in Quito, Ecuador by

both of his parents and his current occupation was a student.

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Physical examination was later performed on the patient. His vital signs where: blood

pressure of 131/71, cardiac frequency of 105, respiratory frequency of 22, oral temperature of

36.6 and an O2 saturation of 93 with no additional oxygen. The physical examination founded

dry oral mucosa, normal heart and breath sounds, a slightly distended abdomen, depressible,

non tender, bowel sounds present abdomen. At hipogastrial level, a palpable mass was

discovered. It measured 10 cm in diameter, was not mobile and had a solid consistency with

regular borders. The mass could not be reduced, elicit pain with movement or cause skin

inflammation or disruptions. The rest of physical examination remained normal.

The patient was admitted and summited to blood and imaging tests. The initial blood

tests are shown on table (1). The patient was subject to an abdominal echography after

hospitalization. The echography report described normal hepatic morphology with no biliary

tree alterations. It described a normal appearing pancreas, spleen, large vessels and

retroperitoneal space. The kidneys displayed symmetry, with no calculi or ectasia. At midline

hipogastrial level the study discovered a hipoechogenic solid mass with measurements of 109

x 83 x 96 mm, encapsulated and well vascularized. The mass applied pressure over the apical

portion of the vesicle but did not causes intraluminal abnormalities.

After the ultrasound report displayed a mass, a simple and contrast computed

tomography (CT) scan where ordered for visualization and determination. The CT scan

(Figures 1, 2, 3) reported an intra-mesenteric mass that measured 12 x 12 x 9 cm that was

occupying the inferior part of the abdominal cavity and a portion of the pelvic cavity. The

mass was oval shaped with well-defined, smooth borders. The mass had a mild capacity for

contrast absorption and performed a grave mass effect across the abdominal structures,

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including: compression of intestinal loops, ingurgitation of mesogastric vessels and

compression of the vesicle dome.

Figure 1. Abdominal CT scan

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Figure 2. Abdominal CT scan

Figure 3. Abdominal CT scan

Additional laboratory and carcinogenic markers where taken. The laboratory results

were inconclusive (Table 1), with no serum marker narrowing plausible pathologies.

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An exploratory laparotomy was scheduled. The surgery performed yielded a well-

circumscribed mass with a diameter of approximately 12cm, vascularized, adhered to the

lateral face of the terminal ileum and the right colon. There where no abnormal mesenteric

lymphatic ganglia, bladder morphology, intraperitoneal liquid or hepatic lesions. The surgery

did not present with major complications. The amount of blood loss quantified did not press

an emerging risk and the mass was sent for pathological examination.

Pathologic studies of the extracted mass reported a desmoid-type fibromatosis. The mass

was also summited for malignant screening. The nuclei of some tumor cells where positive

for beta catenin staining. Pathology was negative for: actin, CD34, desmin, CD117.

Laboratory Data Blood

Reference Range On Admission Post Op On Discharge Hemoglobin (d/dL) 13.6-17.5 17 12.8 11.4

Hematocrit (%) 40 - 52 51.6 37.8 34.3 White Cell Count (per

mm3) 4400-11500 9950 13180

Differential count (%) Neutrophils 50-70 58.4 73

Lymphocytes 25-40 31.2 13.7 Monocytes 2-10 9.8 13 Eosinophils 2-4.5 0.3 0.0 Basophils 0-1 0.2 0.1

Platelet count (per mm3) 150,000-400,000 390,000 322 Sodium (meq/L) 132-146 134

Potassium (meq/L) 3.7-5.4 4.7 LDH (U/L) 313-618 420

Blood Urea Nitrogen (mg/dL)

6-23 16

Urea (mg/dL) 10-70 26.3 23.3 Creatinine (mg/dL) 0.60-1.30 1.20 1.10 Uric Acid (mg/dL) 3.50-8.50 5.20 6

Amilase (U/L) 30-110 40 Lipase (U/L) 23-300 27

Alkaline phosphatase (U/L)

38-126

AST (U/L) 9-50 25 ALT (U/L) 15-59 37

Total bilirubin (mg/dL) 0.20-1.30 1.0 Direct bilirubin (mg/dL) 0.00-0-40 0.3

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INR 0.80-120 1.14 TTP (seg) 23.4-36.2 34.9

PCR (mg/dl) 0.00-10.00 7.00 HIV Non reactive

Urine Color Yellow

pH 5.0 Specific gravity 1.01

Protein Negative Glucose Negative Ketones Negative Blood Negative

Bilirubin Negative Nitrite Negative

Leukocyte esterase Negative Red cells Negative

Leukocytes 2-4 HPF Bacteria Negative

Casts Negative Crystals Negative

Specific Malignant Markers B-HCG <2.6 mUI/l <0.01

AFP 0.00- 7.00 ng/ml 5.66 CEA 0.0-3.8 ng/ml 1.63 Table 1. Laboratory data obtained during patient's hospitalization

DIFFERENTIAL DIAGNOSIS

The 23-year-old patient presented with two major problems at entry from which a differential

diagnosis can be formulated: 1) urinary symptoms and 2) chronic abdominal pain.

Urinary tract symptoms

Urinary symptoms can have several etiologies. The etiology of the symptoms

depends on which part of the urinary tract is affected. To determine the etiology, the

symptoms can be divided in upper and lower urinary tract (McVary & Saini). High urinary

tract symptoms comprehend the renal system and pre renal system mainly, whilst, the lower

urinary tract comprehends the ureter, bladder and urethra. Lower urinary tract symptoms

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(LUTS) are widely unspecific, but can be separated into 3 different categories; storage,

voiding, post-micturition (Abrams, et al.). The different symptoms of each category are

described in table No. 2. Each category upholds a different phase of urine flow through the

LUT. The differentiation of each phase orients the physician into the structures involved. The

patient did not exhibit any sign of upper urinary tract symptoms since the physical

examination did not demonstrate upper urinary tract infection symptoms, plus the blood tests

showed a normal creatinine level; 1.09mg/dl and normal blood urea level; 26mg/dl. The

patient presented to the emergency room with LUTS, specifically: urinary urgency (storage

LUT) and sensation of not being able of completely emptying the bladder (post-micturition

LUT). Storage LUTS represent alterations with filling and emptying of the bladder. While

post-micturition LUTS represent a problem with the action of urinating. Typically, these

symptoms appear on the setting of an overactive balder, detrusor over activity or benign

prostate enlargement (Abrams, Chapple , Khoury, Roehrborn, & de la Rosette), which the

patient does not exhibit signs of. Urine analysis of the patient came back normal plus the CT

scan and echography demonstrate a normal bladder with no signs of enlargement. The

imaging tests describe an intra-abdominal mass that is in contact with the bladder. The mass

is displacing the dome of the bladder, subsequently decreasing the bladder’s capacity for

expansion and proper contraction, eliciting the patient’s emergent symptomatology. The

patient did not present concordant symptoms for a tumor in the intraluminal bladder and

given the age, epidemiology and negative laboratory tests, the diagnosis of bladder

malignancy was unlikely.

Type of LUTS Symptoms

Voiding: These are experienced during urine

flow

Slow Stream

Intermittent Stream

Hesitancy

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Straining to void

Terminal dribble

Dysuria

Storage: These symptoms are felt during the

storage phase and bladder filling.

Urgency

Daytime Frequency

Nocturia

Incontinence

Abnormal Bladder Sensation

Post-micturition: these symptoms occur after

urination.

Incomplete emptying

Post Micturition dribble

LUTS: Lower Urinary Tract Symptoms

Table 2. Types and categories of LUTS

Abdominal pain

Abdominal pain is a widely unspecific symptom. It can withhold severe chronic

diseases, acute life threatening pathologies or benign transitory discomfort (Penner &

Fishman), (Fleischer, Gardner, & Feldman) . The patient presented to the emergency room

with chronic, diffuse, intermittent, lower abdomen located, non-irradiating pain. Lower

abdominal pain suggests a direct interaction of the distal intestinal tract causing the pain, but

it can also carry visceral pain from upper abdominal organs or pelvic structures (Penner &

Fishman, 2017). Chronic and diffuse abdominal pain is associated with inflammatory

diseases and malignancy (Penner & Fishman). Table 3 demonstrates the common

associations between the different types of abdominal pain and its probable pathology. Since

urinary tract pathology was discarded through physical examination and laboratory tests, the

pain was pinpointing intestinal pathology. Hypogastric pain associated to gastrointestinal

(GI) disease is commonly associated with appendicitis, diverticulitis, infectious colitis or

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inflammatory bowel (Penner & Fishman). The physical examination was negative for fever,

organ enlargement, augmented bowel sounds, ascites and tender points. Hepatic enzymes,

bilirubin levels and hepatic dependent coagulation factors where with in reference ranges

(Table 1), making the diagnosis of hepatic or biliary tree pathology uncommon. Pancreatic

markers also did not show any disturbance, discarding pancreatic inflammation. Iron

concentration, iron binding capacity, hemoglobin and hematocrit where all within reference

values (Table 1), in addition to the absence of constitutional symptoms in the patient’s

anamnesis, discarded chronic inflammatory disease and impending malignancy. Serum

quantification of malignancy markers resulted negative (Table 1). The patient’s abdominal

examination was only remarkable for a palpable mass in the midline lower abdomen.

The final analysis of the patient’s symptoms can be achieved by suggesting that the LUTS

symptoms and the abdominal pain where provoked by the expanding nature of the abdominal

mass. The mass was causing visceral inflammation and pressing down on the vesical dome.

The voiding and post micturition LUTS where provoked by two characteristics of the tumor:

1) The reduced expansive capacity of the bladder and 2) the continuous pressure exerted on

nervous and muscular surfaces. The abdominal pain was elicited by visceral compression

caused by the tumor contact with it. The patient was scheduled for exploratory laparotomy to

excise the mass.

Pathology Localization of Pain Clinical Features

Appendicitis RLQ Periumbilical pain initially that radiates to the right lower quadrant. Associated with anorexia, nausea, and vomiting.

Diverticulitis RLQ or LLQ Pain usually constant and present for several days prior to presentation. May have associated nausea and vomiting.

Nephrolithiasis Either Pain most common symptom, varies from mild to severe. Generally flank pain, but may have back or abdominal pain.

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Pyelonephritis Either Associated with dysuria, frequency, urgency, hematuria, fever, chills, flank pain, and costo-vertebral angle tenderness.

AUR Suprapubic Present with lower abdominal pain and discomfort; inability to urinate.

Cystitis Suprapubic Associated with dysuria, frequency, urgency, and hematuria.

Infectious colitis Either Diarrhea as the predominant symptom, but may also have associated abdominal pain, which may be severe.

AUR: Acute Urinary Retention, LLQ: Left Lower Quadrant, RLQ: Right Lower Quadrant

Table 3. Common association of lower abdominal pain and different pathologies

DIAGNOSIS AND TREATMENT

The diagnosis of DT’s is exceptional. Typically, and given the epidemiological rarity

of the tumor, DTs are not often suspected until pathological studies are performed (Ravi,

Shreyaskumar , Chandrajit, & DeLaney). Since the patient’s tumor was not specified,

abdominal pain persisted and additional diagnostic tests could not be performed, exploratory

surgery was the preferential method of diagnosis and treatment. According to Cusack and

Overman, patients with confirmed intestinal tumor by image, assiduous diffuse abdominal

pain and inconclusive blood serum laboratory should undergo surgery (Abbas , et al.). The

surgery was performed under general anesthesia. It required a supraumbilical midline

incision that ended in the pubic symphysis. After exploring the abdominal cavity, the surgeon

resected a well-circumscribed mass with a diameter of approximately 12cm, vascularized and

adhered to the lateral face of the terminal ileum and the right colon. The terminal ileum and 8

cm of the right colon where resected using auto-suture. Two mesenteric nodules where

harvested for analysis. The ureter and bladder where located, examined and declared

undamaged. Before closure, anastomosis between the small bowel distal end and the cecum

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was performed, also utilizing auto-suture. Total time under surgery recorded, was 80 minutes

long. Since the patient’s serum inflammatory and malignancy markers where negative, the

etiology of the tumor remained undisclosed until pathology and immunohistochemical

studies where performed. The macroscopic analysis of the tumor sample yielded a 13 x 12 x

10 cm that where dependent of a 16cm of intestine. The surface of the tumor was colored

white with yellow serous patches that gave the mass a fibro-mixoid appearance. In relation to

the intestine, it grew beneath the mucosal layer and respected the visceral serous with no

interference of the intestinal free margin. The surgical borders where clean. In respect to the

microscopic description the pathologist described a mesenchymal neoplasm with undulated

fascicles of fibroblastic cells. The cells displayed mild nuclear atypia and where accompanied

by dense collagen fibers. There was no necrosis produced with in the tissue, the intestinal

mucosa showed no alterations but the propia muscularis was infiltrated by the neoplasm. The

lymphatic nodules harvested where of normal appearance. The immunohistochemic analysis

demonstrated a nuclear stain with beta catenin. The complete pathological analysis diagnosed

a desmoid type fibrous neoplasm.

PATHOLOGY

The pathology laboratory received three samples to analyze: the mass containing a

segment of intestine and two mesenteric lymphatic nodules. The mesenteric lymphatic

nodules where analyzed by both light microscopy and immunohistochemistry. Both nodules

where negative for structural abnormalities, maintaining their physiological macroscopic and

microscopic appearance. The citogenic staining of the nodules was also negative. As for the

tumor, it had the physical and immunohistochemical appearance of a DT. Histology and

immune staining of tumoral entities requires expertise and continuous update of techniques

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(Aitken, et al.). Apart from light microscopy, the single definitive study to complete the

diagnosis of DT’s is immunohistochemical analysis. To differentiate the specimen from

plausible fibrous masses, specific molecular processes are isolated. Appendix A, displays the

common immunochemical staining performed in the differential diagnoses of fibrous

appearing masses. Apart from the diagnosis, the identification of these specific processes

provides information about the prognosis and behavior of the DT. Although not completely

understood, there are two major molecular pathways described in DT’s; Wnt-Beta Catenin

signaling pathway and APC (Adenomatous Polyposis Coli) complex (Barker, 2008). In

physiologic conditions, Beta-Catenin is a transcription factor. It interacts within

mesenchymal cells to promote cellular proliferation. The APC complex regulates beta-

catenin actions by phosphorylating the excess and signaling proteasome degradation with in

the cell (Barker), (Lazar, Hajibashi, & Lev ) (Aitken, et al.). Wnt signaling pathway is

activated by an unknown ligand, the activated Wnt pathway inhibits the APC complex

capacity to phosphorylate the excess beta-catenin. The excess beta-catenin results in nuclear

translocation of the molecule and promotion of DNA transcription (Lazar, et al.) (Lazar,

Hajibashi, & Lev ). The promotion of gene transcription provokes an augment in cellular

proliferation and improved cell survival. (Ravi, Shreyaskumar , Chandrajit, & DeLaney).

APC complex is the most described alteration for DT appearance (Ravi, Shreyaskumar ,

Chandrajit, & DeLaney) (Lazar, Hajibashi, & Lev ). It is well described in FAP and it

appears in most cases of DT’s (Ravi, Shreyaskumar , Chandrajit, & DeLaney) (Lazar,

Hajibashi, & Lev ) (Aitken, et al.). A defective APC protein results in accumulation of beta-

catenin and posterior aiding of transcription. APC mutations occur predominantly in

chromosome 5q, this provokes a premature stop codon of the genetic reading, resulting in a

truncated gene product without performing capacity (Aitken, et al.). The patient’s tumor

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analysis was positive for beta catenin staining. It appeared mainly in the nuclei of various

tumoral cells, providing a proper cellular diagnostic characteristic of a DT.

FOLLOW UP

The patient’s post-operative status was stable. The general condition improved, with

stable vital signs and normal mental status. Surgical site was closed, with no local or general

signs of inflammation. Post-operation laboratory tests displayed an important reduction in

hemoglobin and hematocrit (Table 1.0). The anemia encountered, was accounted to the

surgical procedure and the amount of blood loss during the operation. Iron and maturation

stimulants where not associated with the anemia. Patient was discharged three days after the

operation. Since the anemia would resolve with proper diet and rest, and the patient presented

proper vowel functions and no alarming signs or symptoms, he was discharged.

Total pathological and immunohistochemical analysis of the tumor took two weeks.

The diagnosis of a DT required the patient to follow strict maintenance meetings with the

physician and imaging tests. The patient returned a month after the operation for a follow up

visit. A CT scan and lower digestive endoscopy was performed. CT scan demonstrated a

normal appearing abdomen with no evidence of new masses. The lower endoscopy, revealed

a normal appearing digestive system. The colonoscopy demonstrated no signs of polyps,

inflammation, ulcers or damage to the luminal border through out the entire tract.

Additionally, the patient’s digestive tract was working properly. Motility displayed no

alterations with normal bearing of diet and no history of diarrhea, weight loss or abdominal

pain. The urinary symptoms disappeared completely. The patient was now able to empty his

bladder and sustained no further sensation of voiding incapacity.

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A plan was scheduled for a continuous long-term vigilance. According to National

Comprehensive Cancer Network (NCCN), the patient is required to be scanned every six

months for the first 3 years, then each year until year 6 and later every other year. The patient

understood the nature of the tumor that was harvested and was determined to follow the

periodic observance.

DISCUSSION

Desmoid tumors are incidental, precipitously developing neoplasms that require

constant supervision (Reitamo , Häyry , Nykyri , & Saxén ) (Reitamo , Häyry , Nykyri , &

Saxén ). Although not predominant in the population, DT’s require specific patient and

molecular investigation to encounter the pathology’s’ origin. After analyzing the patient’s

history and diagnosis, the case presented is an individualized, specific and rare entity that

exemplifies the constant unpredictable nature of DT’s (Ravi, Shreyaskumar , Chandrajit, &

DeLaney). Although the patient’s pathological and immunochemical studies reach diagnostic

standards, the patient’s family and traumatic history lack specific key events for the

diagnosis. It also raises the necessity to discuss present day DT diagnostic tests, their value

and future possibilities. Another characteristic of the pathology that must be discussed is the

variable genetic composition in which the tumor arises; a proper identification of the

population at risk must be addressed. In this case, the physicians encountered several

problems along the way, for example, the patient’s unspecific symptoms, which presented the

doctors with the important challenge to pinpoint a specific disease. Another inconvenience

encountered through out the process was the laboratory and imaging tests, which displayed a

high specificity percentage but a low sensibility rate. The most time consuming problem, a

raised, from the insufficient pathology instruments in the hospital, which demanded the

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necessity for the specimen to be studied in the United States. The case presented also gave

rise to future enhancements for the diagnosis and treatment, with a wide range of

improvements in the diagnosis tests, molecular pathways to be studied and possible

treatments to discover.

To continue, the variable presentation and characteristics of DT’s make it a difficult

diagnosis for any physician. A proper patient clinical and familial history could orient the

physician and place a DT as a plausible diagnosis. Abdominal trauma, familial adenomatous

polyposis and gestational age are all factors to consider and locate during patient history

taking (Ravi, Shreyaskumar , Chandrajit, & DeLaney). The rapid growth and re growth rate

of the tumor should also provide information to the physician. The patient in this study

although, is a special case, since the patients history did not include any of the risk factors

listed above.

Another issue to address is the diagnostic tests that can identify DT’s. Since the

etiology of the tumor is unknown, specific diagnostic tests are still unavailable to recognize

DT’s (Fiore, et al., 2009). As further research is performed on the pathways that allow the

tumor to grow, a possible diagnostic marker for the diagnosis is beta catenin (Ravi,

Shreyaskumar , Chandrajit, & DeLaney) (Aitken, et al.) (Lazar, Hajibashi, & Lev ). The

accumulation of this molecule inside the nucleus and cytoplasm of affected cells can be

addressed in the future to properly identify DT. As for image test, the resemblance of DT and

other neoplasms displays an almost impossible differentiation, especially when the DT’s is

intra abdominal (Abbas , et al.). Although echography is useful to diagnose DT’s, it is mostly

reserved to extra abdominal exploration, particularly the chest and abdominal wall. The

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patient’s tumor made it particularly difficult to differentiate and provided little information

about the tumors etiology.

Additionally, genetics is a corner stone in the etiology of DTs. The amount of

sporadic form of presentation gives rise for reasonable debate to an unidentified mutation.

Although most cases of DT’s are related to FAP, they only amount to a maximum of twenty

percent of cases that are known to have a prior diagnosis of FAP. Specific individual

chromosomal trisomys have been described, exclusively in chromosomes 8 and 20 that

generate DTs (Aitken, et al.). Pediatric forms of DT’s have been known to evade completely

the adult Wnt/beta-catenin pathway, presenting with a solely specific pathway of their own.

The problems encountered during the patient’s hospitalization where not major, but

prolonged the definite diagnosis. The first problem encountered was the patient’s widely

unspecific symptoms. The urinary tract symptoms and the abdominal pain did not associate

with a counter response. The patient presented no signs an affected organ system even less a

systemic response. The proper exploration an identification of an abdominal mass was crucial

to the diagnosis. Another problem that doctors encountered during the patients

hospitalization, is the lack of laboratory variations. Blood work up and urinalysis of the

patient where completely uneventful, making it a very difficult case to asses. Negative

malignancy markers in the presence of an intra-mesenteric tumor where also compoundly

uncommon. The most frustrating setback confronted was the hospital inability to perform a

final diagnosis. The extracted tumor had to be transported outside the country for proper

evaluation. The transportation of the specimen alone could have resulted catastrophic for the

patient, exposing the only piece of study to a wide variety of variables.

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For the future, a set of improvement could be made. For instance, and improvement in

pathological studies inside the hospital. This can provide the patient and physician security

and reduce the chances of misdiagnosis. Research, as for treatment and etiology, should be

analyzed. The need for a specific pathway that produce the disequilibrium with in the

neoplastic cells is needed to produce standardized laboratory tests. The patients tumor was

intraabdominal and with no identifiable nature. Given the pathology’s type and the lack of

specific tests, exploratory laparotomy will remain the main source of diagnosis and treatment

in cases like this.

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APPENDIX A: FIBROUS TUMOR IMMUNOHISTOCHEMICAL STAINING

Retrieved form UpToDate 2018.

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